HsaEX1009491 @ hg38
Exon Skipping
Gene
ENSG00000130309 | COLGALT1
Description
collagen beta(1-O)galactosyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:26182]
Coordinates
chr19:17579482-17580905:+
Coord C1 exon
chr19:17579482-17579609
Coord A exon
chr19:17580218-17580240
Coord C2 exon
chr19:17580699-17580905
Length
23 bp
Sequences
Splice sites
3' ss Seq
TGCCACCAACATGTTTCCAGCAC
3' ss Score
4.17
5' ss Seq
TCTGTAAGT
5' ss Score
7.96
Exon sequences
Seq C1 exon
GTGGTGGACCGGGGGCTGCAGAAATCGCTTGTGTTTGAGGATGACCTGCGTTTTGAGATCTTCTTCAAGAGACGTCTGATGAACCTCATGCGGGATGTGGAGCGGGAGGGCCTGGACTGGGACCTCAT
Seq A exon
CACTGGAGCCGTCCTTCTCTTCT
Seq C2 exon
CTATGTGGGCCGGAAGCGGATGCAGGTGGAGCACCCCGAGAAGGCTGTGCCTCGCGTGAGGAACCTGGTGGAGGCCGACTATTCCTACTGGACCCTGGCCTACGTGATCTCCCTGCAAGGCGCCCGCAAACTGCTGGCTGCTGAGCCGCTCTCCAAGATGCTGCCTGTGGACGAGTTCCTGCCCGTCATGTTCGACAAACACCCAGT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130309_MULTIEX2-1/2=C1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.284
Domain overlap (PFAM):
C1:
PF0175512=Glyco_transf_25=FE(22.6=100)
A:
PF0175512=Glyco_transf_25=PD(0.1=0.0)
C2:
PF0175512=Glyco_transf_25=PD(32.3=85.7)
Main Inclusion Isoform:
ENST00000252599fB12824
Other Inclusion Isoforms:
NA
Associated events
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCTGGACTGGGACCTCAT
R:
TAGGAATAGTCGGCCTCCACC
Band lengths:
106-129
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains